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J. Peter van Tintelen
J. Peter van Tintelen
professor of clinical genetics
E-mail confirmado em umcutrecht.nl - Página inicial
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2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy
JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman, H Calkins, ...
Heart rhythm 16 (11), e301-e372, 2019
8912019
2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)
E Arbelo, A Protonotarios, JR Gimeno, E Arbustini, R Barriales-Villa, ...
European heart journal 44 (37), 3503-3626, 2023
8542023
Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers: a European cohort study
IAW van Rijsingen, E Arbustini, PM Elliott, J Mogensen, ...
Journal of the American College of Cardiology 59 (5), 493-500, 2012
5772012
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
JH Van Berlo, WG De Voogt, AJ Van Der Kooi, JP Van Tintelen, G Bonne, ...
Journal of molecular medicine 83, 79-83, 2005
5392005
A sodium-channel mutation causes isolated cardiac conduction disease
HL Tan, MTE Bink-Boelkens, CR Bezzina, PC Viswanathan, ...
Nature 409 (6823), 1043-1047, 2001
5162001
Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members
JA Groeneweg, A Bhonsale, CA James, AS Te Riele, D Dooijes, ...
Circulation: Cardiovascular Genetics 8 (3), 437-446, 2015
4972015
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of …
PA Van Der Zwaag, IAW Van Rijsingen, A Asimaki, JDH Jongbloed, ...
European journal of heart failure 14 (11), 1199-1207, 2012
4872012
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
A Bhonsale, JA Groeneweg, CA James, D Dooijes, C Tichnell, ...
European heart journal 36 (14), 847-855, 2015
4402015
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
JP van Tintelen, MM Entius, ZA Bhuiyan, R Jongbloed, ACP Wiesfeld, ...
Circulation 113 (13), 1650-1658, 2006
4392006
Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics
B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ...
Human mutation 34 (7), 1035-1042, 2013
4022013
The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular …
A Medeiros-Domingo, ZA Bhuiyan, DJ Tester, N Hofman, H Bikker, ...
Journal of the American College of Cardiology 54 (22), 2065-2074, 2009
3802009
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)
AAM Wilde, RJE Jongbloed, PA Doevendans, DR Düren, RNW Hauer, ...
Journal of the American College of Cardiology 33 (2), 327-332, 1999
3801999
Evaluating the clinical validity of hypertrophic cardiomyopathy genes
J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ...
Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019
3782019
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy …
MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ...
Genetics in Medicine 20 (3), 351-359, 2018
3562018
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia–associated mutations from background genetic noise
JD Kapplinger, AP Landstrom, BA Salisbury, TE Callis, GD Pollevick, ...
Journal of the American College of Cardiology 57 (23), 2317-2327, 2011
3452011
Evidence-based assessment of genes in dilated cardiomyopathy
E Jordan, L Peterson, T Ai, B Asatryan, L Bronicki, E Brown, R Celeghin, ...
Circulation 144 (1), 7-19, 2021
3402021
Retracted and republished: A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy
J Cadrin-Tourigny, LP Bosman, A Nozza, W Wang, R Tadros, A Bhonsale, ...
European heart journal 40 (23), 1850-1858, 2019
335*2019
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis
D Corrado, PJ Van Tintelen, WJ McKenna, RNW Hauer, A Anastastakis, ...
European heart journal 41 (14), 1414-1429, 2020
3182020
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
KY van Spaendonck-Zwarts, JP van Tintelen, DJ van Veldhuisen, ...
Circulation 121 (20), 2169-2175, 2010
3132010
Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features
ZA Bhuiyan, MP van den Berg, JP van Tintelen, MTE Bink-Boelkens, ...
Circulation 116 (14), 1569-1576, 2007
2822007
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